Canonical Allele Identifier: CA411549545
Community Standard Title: NM_002473.6(MYH9):c.99G>T (p.Trp33Cys)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36349138C>A , CM000684.2:g.36349138C>A GRCh38
NC_000022.10:g.36745183C>A , CM000684.1:g.36745183C>A GRCh37
NC_000022.9:g.35075129C>A NCBI36
NG_011884.2:g.43881G>T , LRG_567:g.43881G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.99G>T MANE Select NP_002464.1:p.Trp33Cys
ENST00000216181.11:c.99G>T MANE Select ENSP00000216181.6:p.Trp33Cys
NM_002473.5:c.99G>T , LRG_567t1:c.99G>T NP_002464.1:p.Trp33Cys
ENST00000216181.9:c.99G>T ENSP00000216181.5:p.Trp33Cys
ENST00000401701.1:c.99G>T ENSP00000384631.1:p.Trp33Cys
ENST00000456729.1:c.99G>T ENSP00000414852.1:p.Trp33Cys
ENST00000685187.1:n.313G>T
ENST00000685191.1:n.322G>T
ENST00000685801.1:c.99G>T ENSP00000510688.1:p.Trp33Cys
ENST00000688137.1:c.99G>T ENSP00000510189.1:p.Trp33Cys
ENST00000691296.1:c.99G>T ENSP00000509816.1:p.Trp33Cys
ENST00000691687.1:n.313G>T
ENST00000692930.1:n.313G>T
XM_011530197.1:c.99G>T XP_011528499.1:p.Trp33Cys
XM_011530197.2:c.99G>T XP_011528499.1:p.Trp33Cys
XM_017028803.1:c.99G>T XP_016884292.1:p.Trp33Cys
XM_017028804.1:c.99G>T XP_016884293.1:p.Trp33Cys
XM_017028805.1:c.99G>T XP_016884294.1:p.Trp33Cys
XM_017028806.1:c.99G>T XP_016884295.1:p.Trp33Cys